Disease: Thrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908064
rs121908064
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C0040034
Disease:
Thrombocytopenia 		G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs757006129
rs757006129
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C0040034
Disease:
Thrombocytopenia 		0.010 GeneticVariation BEFREE Our data show that the R307H SNP is significantly associated with the degree of thrombocytopenia in congenital and acquired platelet disorders, and may affect platelets by altering microtubule behavior. 25529050 2015
dbSNP: rs121908065
rs121908065
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C0040034
Disease:
Thrombocytopenia 		0.010 GeneticVariation BEFREE Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). 21933849 2012